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The rare and undiagnosed diseases diagnostic service – application of massively parallel sequencing in a state-wide clinical serviceThe Rare and Undiagnosed Diseases Diagnostic Service refers to a genomic diagnostic platform operating within the Genetic Services of Western Australia
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The genetic associations of acute anterior uveitis and their overlap with the genetics of ankylosing spondylitisThese findings also suggest that variants in ERAP1 have a differential impact on the risk of AAU when compared with AS, and hence the genetic risk for AAU...
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A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formationThe regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation
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Anti-Interleukin-10 Unleashes Transcriptional Response to Leishmanial Antigens in Visceral Leishmaniasis PatientsVisceral leishmaniasis (VL; Leishmania donovani) cases produce interferon-γ and tumor necrosis factor in response to soluble leishmanial antigen in whole-blood assays. Using transcriptional profiling, we demonstrate the impact of interleukin-10, a cytokine implicated in VL, on this response.
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Reference exome data for a Northern Brazilian populationExome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.
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A microbiome case-control study of recurrent acute otitis media identified potentially protective bacterial generaWe characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria.
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Expression profiling of Sudanese visceral leishmaniasis patients pre- and post-treatment with sodium stibogluconateThese results contribute to our understanding of immunopathology associated with visceral leishmaniasis and response to sodium stibogluconate treatment
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A retrospective study of Babesia macropus associated with morbidity and mortalityThis is a retrospective study of 38 cases of infection by Babesia macropus, associated with a syndrome of anaemia and debility in hand-reared or free-ranging...
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Genetic Research and Aboriginal and Torres Strait Islander AustraliansHuman genetic research promises to deliver a range of health benefits to the population. Here we consider how the different levels of Indigenous research...